Canonical Allele Identifier: CA2186743212
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345356_72345359delinsATTG , CM000677.2:g.72345356_72345359delinsATTG GRCh38
NC_000015.9:g.72637697_72637700delinsATTG , CM000677.1:g.72637697_72637700delinsATTG GRCh37
NC_000015.8:g.70424751_70424754delinsATTG NCBI36
NG_009017.1:g.35821_35824delinsCAAT
NG_009017.2:g.35821_35824delinsCAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*273_*276delinsCAAT ENSP00000457521.2:n.*273_*276delinsCAAT
ENST00000682061.1:c.*1959_*1962delinsCAAT ENSP00000508316.1:n.*1959_*1962delinsCAAT
ENST00000682064.1:n.1753+87_1753+90delinsCAAT
ENST00000682177.1:c.1656_1659delinsCAAT ENSP00000507409.1:n.1656_1659delinsCAAT
ENST00000682235.1:n.1549+87_1549+90delinsCAAT
ENST00000682461.1:c.1632+87_1632+90delinsCAAT ENSP00000507308.1:n.1632+87_1632+90delinsCAAT
ENST00000682653.1:n.2617_2620delinsCAAT
ENST00000682657.1:c.*1450_*1453delinsCAAT ENSP00000507753.1:n.*1450_*1453delinsCAAT
ENST00000682721.1:c.*1329+87_*1329+90delinsCAAT ENSP00000507535.1:n.*1329+87_*1329+90delinsCAAT
ENST00000682843.1:c.*1167+87_*1167+90delinsCAAT ENSP00000508173.1:n.*1167+87_*1167+90delinsCAAT
ENST00000683003.1:c.*1450_*1453delinsCAAT ENSP00000507576.1:n.*1450_*1453delinsCAAT
ENST00000683133.1:c.1710+87_1710+90delinsCAAT ENSP00000508108.1:n.1710+87_1710+90delinsCAAT
ENST00000683243.1:c.*679+87_*679+90delinsCAAT ENSP00000507042.1:n.*679+87_*679+90delinsCAAT
ENST00000683463.1:c.*1015+87_*1015+90delinsCAAT ENSP00000507986.1:n.*1015+87_*1015+90delinsCAAT
ENST00000683548.1:n.1984+87_1984+90delinsCAAT
ENST00000683579.1:c.*1424+87_*1424+90delinsCAAT ENSP00000506867.1:n.*1424+87_*1424+90delinsCAAT
ENST00000683587.1:n.2057+87_2057+90delinsCAAT
ENST00000683681.1:c.*204+87_*204+90delinsCAAT ENSP00000508110.1:n.*204+87_*204+90delinsCAAT
ENST00000683735.1:c.*1924+87_*1924+90delinsCAAT ENSP00000508336.1:n.*1924+87_*1924+90delinsCAAT
ENST00000683853.1:c.*418_*421delinsCAAT ENSP00000506834.1:n.*418_*421delinsCAAT
ENST00000683860.1:c.*646+87_*646+90delinsCAAT ENSP00000507179.1:n.*646+87_*646+90delinsCAAT
ENST00000683884.1:c.*940_*943delinsCAAT ENSP00000507004.1:n.*940_*943delinsCAAT
ENST00000684125.1:c.*186+87_*186+90delinsCAAT ENSP00000507320.1:n.*186+87_*186+90delinsCAAT
ENST00000684203.1:n.3975+87_3975+90delinsCAAT
ENST00000684231.1:c.*936+87_*936+90delinsCAAT ENSP00000507748.1:n.*936+87_*936+90delinsCAAT
ENST00000684263.1:c.*1150+87_*1150+90delinsCAAT ENSP00000508369.1:n.*1150+87_*1150+90delinsCAAT
ENST00000684305.1:c.1974+87_1974+90delinsCAAT ENSP00000506819.1:n.1974+87_1974+90delinsCAAT
ENST00000684415.1:c.*1164_*1167delinsCAAT ENSP00000507227.1:n.*1164_*1167delinsCAAT
ENST00000684520.1:c.*872_*875delinsCAAT ENSP00000506826.1:n.*872_*875delinsCAAT
ENST00000684602.1:c.*1192+87_*1192+90delinsCAAT ENSP00000507996.1:n.*1192+87_*1192+90delinsCAAT
ENST00000684667.1:c.1857+87_1857+90delinsCAAT ENSP00000507003.1:n.1857+87_1857+90delinsCAAT
ENST00000268097.10:c.1526+87_1526+90delinsCAAT MANE Select ENSP00000268097.6:n.1526+87_1526+90delinsCAAT
ENST00000268097.9:c.1526+87_1526+90delinsCAAT ENSP00000268097.5:n.1526+87_1526+90delinsCAAT
ENST00000379915.4:c.608+87_608+90delinsCAAT ENSP00000478716.1:n.608+87_608+90delinsCAAT
ENST00000564677.5:n.318+87_318+90delinsCAAT
ENST00000565873.1:n.437+87_437+90delinsCAAT
ENST00000566304.5:c.1559+87_1559+90delinsCAAT ENSP00000455114.1:n.1559+87_1559+90delinsCAAT
ENST00000567027.5:c.1228_1231delinsCAAT
ENST00000567411.5:c.*1047+87_*1047+90delinsCAAT ENSP00000455545.1:n.*1047+87_*1047+90delinsCAAT
ENST00000568777.5:n.6833_6836delinsCAAT
ENST00000569116.1:n.320_323delinsCAAT
NM_000520.4:c.1526+87_1526+90delinsCAAT NP_000511.2:n.1526+87_1526+90delinsCAAT
NM_000520.5:c.1526+87_1526+90delinsCAAT NP_000511.2:n.1526+87_1526+90delinsCAAT
NM_001318825.1:c.1559+87_1559+90delinsCAAT NP_001305754.1:n.1559+87_1559+90delinsCAAT
NR_134869.1:n.1857_1860delinsCAAT
NM_000520.6:c.1526+87_1526+90delinsCAAT MANE Select NP_000511.2:n.1526+87_1526+90delinsCAAT
NM_001318825.2:c.1559+87_1559+90delinsCAAT NP_001305754.1:n.1559+87_1559+90delinsCAAT
NR_134869.2:n.1398_1401delinsCAAT
NR_134869.3:n.1398_1401delinsCAAT